Variant report

Variant	rs56145552
Chromosome Location	chr17:17309009-17309010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17306217..17309179-chr17:17398363..17401256,2	MCF-7	breast:
2	chr17:17308878..17311513-chr17:17316490..17320191,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1569040	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1569042	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16961654	1.00[ASN][1000 genomes]
rs16961656	0.91[ASN][1000 genomes]
rs2089461	0.89[ASN][1000 genomes]
rs34243760	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389187	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34500456	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34955670	0.92[AFR][1000 genomes]
rs35815169	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56668001	0.90[ASN][1000 genomes]
rs61246739	0.90[ASN][1000 genomes]
rs71364024	0.81[EUR][1000 genomes]
rs7211180	0.89[ASN][1000 genomes]
rs8069731	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8079827	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080681	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907592	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv1058849	chr17:17308009-17348548	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1058804	chr17:17308984-17348548	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17299800-17310400	Enhancers	Primary hematopoietic stem cells	blood
2	chr17:17302000-17318800	Weak transcription	Right Atrium	heart
3	chr17:17305000-17311400	Weak transcription	Pancreas	Pancrea
4	chr17:17305200-17309600	Weak transcription	Esophagus	oesophagus
5	chr17:17305800-17309200	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:17306000-17310000	Enhancers	Fetal Muscle Leg	muscle
7	chr17:17306200-17309600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:17306400-17309600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:17306600-17309200	Weak transcription	HepG2	liver
10	chr17:17306600-17315400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:17306800-17309200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:17306800-17309200	Weak transcription	Hela-S3	cervix
13	chr17:17307000-17311400	Weak transcription	Osteobl	bone
14	chr17:17307200-17316600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:17307600-17309800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:17307600-17310000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr17:17307600-17310200	Enhancers	Brain Germinal Matrix	brain
18	chr17:17307800-17309200	Weak transcription	Spleen	Spleen
19	chr17:17307800-17309600	Weak transcription	Lung	lung
20	chr17:17307800-17309800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:17307800-17309800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr17:17307800-17310400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr17:17307800-17310400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr17:17307800-17311800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr17:17307800-17313000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:17308000-17310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:17308000-17310600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:17308000-17310800	Enhancers	Primary T cells from cord blood	blood
29	chr17:17308000-17310800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr17:17308000-17311000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:17308000-17311600	Weak transcription	HUVEC	blood vessel
32	chr17:17308000-17313400	Weak transcription	Brain Substantia Nigra	brain
33	chr17:17308000-17313600	Weak transcription	Fetal Brain Male	brain
34	chr17:17308000-17314400	Enhancers	Fetal Thymus	thymus
35	chr17:17308000-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:17308200-17310600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr17:17308200-17310600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr17:17308200-17311600	Enhancers	Thymus	Thymus
39	chr17:17308200-17316600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr17:17308400-17309400	Weak transcription	Primary B cells from cord blood	blood
41	chr17:17308400-17310400	Weak transcription	Fetal Brain Female	brain
42	chr17:17308400-17312000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr17:17308800-17309200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr17:17308800-17310400	Enhancers	Brain Anterior Caudate	brain
45	chr17:17308800-17312400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:17308800-17312400	Enhancers	Dnd41	blood
47	chr17:17309000-17312200	Enhancers	Adipose Nuclei	Adipose

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